Canonical Allele Identifier: CA443295593
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716870G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716761G>T , CM000667.2:g.14716761G>T GRCh38
NC_000005.9:g.14716870G>T , CM000667.1:g.14716870G>T GRCh37
NC_000005.8:g.14769870G>T NCBI36
NG_008273.1:g.160018C>A
NG_008273.2:g.160025C>A
NG_051625.1:g.60968G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1086C>A MANE Select ENSP00000284268.6:p.Ala362=
ENST00000284268.6:c.1086C>A ENSP00000284268.6:p.Ala362=
ENST00000502585.1:n.328C>A
NM_054027.4:c.1086C>A NP_473368.1:p.Ala362=
NM_054027.5:c.1086C>A NP_473368.1:p.Ala362=
XM_017009644.2:c.1002C>A XP_016865133.1:p.Ala334=
NM_054027.6:c.1086C>A MANE Select NP_473368.1:p.Ala362=